BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs762642
rs762642 		1.000 0.040 14 53956335 splice region variant A/C snv 0.35
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs767216159
rs767216159 		0.925 0.160 14 53950809 missense variant G/A;C snv 1.2E-04; 1.2E-05
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs767216159
rs767216159 		0.925 0.160 14 53950809 missense variant G/A;C snv 1.2E-04; 1.2E-05
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs777406477
rs777406477 		1.000 0.040 14 53950783 missense variant C/T snv 4.8E-05 7.0E-06
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016